Canonical Allele Identifier: CA342203821

Gene: CHD1L

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147272267T>C , CM000663.2:g.147272267T>C	GRCh38
NC_000001.10:g.146743928T>C , CM000663.1:g.146743928T>C	GRCh37
NC_000001.9:g.145210552T>C	NCBI36
NG_052905.1:g.104074T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361293.10:c.800T>C	ENSP00000355100.6:p.Leu267Pro
ENST00000431239.6:c.1040T>C	ENSP00000389031.3:p.Leu347Pro
ENST00000650714.1:c.1256T>C	ENSP00000499169.1:p.Leu419Pro
ENST00000650721.1:c.*84T>C	ENSP00000498234.1:n.*84T>C
ENST00000650813.1:n.486T>C
ENST00000650828.1:c.*876T>C	ENSP00000499019.1:n.*876T>C
ENST00000651070.1:c.*84T>C	ENSP00000498564.1:n.*84T>C
ENST00000651206.1:c.*84T>C	ENSP00000498494.1:n.*84T>C
ENST00000651207.1:c.*893T>C	ENSP00000499060.1:n.*893T>C
ENST00000651226.1:c.*867T>C	ENSP00000498459.1:n.*867T>C
ENST00000651231.1:c.1231T>C
ENST00000651407.1:c.*84T>C	ENSP00000499081.1:n.*84T>C
ENST00000651410.1:c.*478T>C	ENSP00000498830.1:n.*478T>C
ENST00000651420.1:c.*795T>C	ENSP00000499167.1:n.*795T>C
ENST00000651510.1:c.*670T>C	ENSP00000499181.1:n.*670T>C
ENST00000651820.1:c.1352T>C
ENST00000652161.1:c.*639T>C	ENSP00000498703.1:n.*639T>C
ENST00000652188.1:c.1222T>C
ENST00000652278.1:c.*860T>C	ENSP00000499065.1:n.*860T>C
ENST00000652346.1:c.*718T>C	ENSP00000498239.1:n.*718T>C
ENST00000652357.1:c.*812T>C	ENSP00000498808.1:n.*812T>C
ENST00000652486.1:c.*596T>C	ENSP00000499043.1:n.*596T>C
ENST00000652494.1:c.*596T>C	ENSP00000499049.1:n.*596T>C
ENST00000652587.1:c.128-3087T>C	ENSP00000498899.1:n.128-3087T>C
ENST00000652616.1:c.*975T>C	ENSP00000499195.1:n.*975T>C
ENST00000361293.9:c.413T>C	ENSP00000355100.5:p.Leu138Pro
ENST00000369258.8:c.1256T>C MANE Select	ENSP00000358262.4:p.Leu419Pro
ENST00000369259.4:c.644T>C	ENSP00000358263.3:p.Leu215Pro
ENST00000431239.5:c.956T>C	ENSP00000389031.2:p.Leu319Pro
ENST00000467213.5:c.1086-3087T>C	ENSP00000477985.1:n.1086-3087T>C
ENST00000469625.2:n.108T>C
ENST00000485113.5:n.307T>C
ENST00000488864.5:c.726T>C	ENSP00000482764.1:n.726T>C
ENST00000622533.4:c.*979T>C	ENSP00000480553.1:n.*979T>C
NM_001256336.1:c.956T>C	NP_001243265.1:p.Leu319Pro
NM_001256337.1:c.413T>C	NP_001243266.1:p.Leu138Pro
NM_001256338.1:c.644T>C	NP_001243267.1:p.Leu215Pro
NM_004284.4:c.1256T>C	NP_004275.4:p.Leu419Pro
NM_024568.2:c.917T>C	NP_078844.2:p.Leu306Pro
NR_046070.1:n.1149-3087T>C
XM_006711638.1:c.1256T>C	XP_006711701.1:p.Leu419Pro
XM_006711639.2:c.917T>C	XP_006711702.1:p.Leu306Pro
XR_922001.1:n.1319T>C
NM_001256336.2:c.956T>C	NP_001243265.1:p.Leu319Pro
NM_001256337.2:c.413T>C	NP_001243266.1:p.Leu138Pro
NM_001256338.2:c.644T>C	NP_001243267.1:p.Leu215Pro
NM_001348451.1:c.1040T>C	NP_001335380.1:p.Leu347Pro
NM_001348452.1:c.1040T>C	NP_001335381.1:p.Leu347Pro
NM_001348453.1:c.917T>C	NP_001335382.1:p.Leu306Pro
NM_001348454.1:c.800T>C	NP_001335383.1:p.Leu267Pro
NM_001348455.1:c.767T>C	NP_001335384.1:p.Leu256Pro
NM_001348456.1:c.413T>C	NP_001335385.1:p.Leu138Pro
NM_001348457.1:c.413T>C	NP_001335386.1:p.Leu138Pro
NM_001348458.1:c.413T>C	NP_001335387.1:p.Leu138Pro
NM_001348459.1:c.413T>C	NP_001335388.1:p.Leu138Pro
NM_001348460.1:c.413T>C	NP_001335389.1:p.Leu138Pro
NM_001348461.1:c.413T>C	NP_001335390.1:p.Leu138Pro
NM_001348462.1:c.413T>C	NP_001335391.1:p.Leu138Pro
NM_001348463.1:c.413T>C	NP_001335392.1:p.Leu138Pro
NM_001348464.1:c.413T>C	NP_001335393.1:p.Leu138Pro
NM_001348465.1:c.413T>C	NP_001335394.1:p.Leu138Pro
NM_001348466.1:c.413T>C	NP_001335395.1:p.Leu138Pro
NM_004284.5:c.1256T>C	NP_004275.4:p.Leu419Pro
NM_024568.3:c.917T>C	NP_078844.2:p.Leu306Pro
NR_046070.2:n.1149-3087T>C
NR_145681.1:n.1056T>C
NR_145682.1:n.1245T>C
NR_145683.1:n.1238T>C
NR_145684.1:n.1125T>C
NR_145685.1:n.1156T>C
NR_145686.1:n.1245T>C
NR_145687.1:n.381-3087T>C
NR_145688.1:n.1100T>C
NR_145689.1:n.1132T>C
NR_145690.1:n.796T>C
NR_145691.1:n.1130T>C
NR_145692.1:n.1163T>C
NR_145693.1:n.746T>C
NR_145694.1:n.1238T>C
NR_145695.1:n.1050T>C
XM_024451049.1:c.-375T>C	XP_024306817.1:n.-375T>C
XM_024451050.1:c.-375T>C	XP_024306818.1:n.-375T>C
XM_024451051.1:c.-375T>C	XP_024306819.1:n.-375T>C
XR_001737550.2:n.1314T>C
NM_004284.6:c.1256T>C MANE Select	NP_004275.4:p.Leu419Pro
NM_001256336.3:c.956T>C	NP_001243265.1:p.Leu319Pro
NM_001256337.3:c.413T>C	NP_001243266.1:p.Leu138Pro
NM_001256338.3:c.644T>C	NP_001243267.1:p.Leu215Pro
NM_001348451.2:c.1040T>C	NP_001335380.1:p.Leu347Pro
NM_001348453.2:c.917T>C	NP_001335382.1:p.Leu306Pro
NM_001348454.2:c.800T>C	NP_001335383.1:p.Leu267Pro
NM_001348455.2:c.767T>C	NP_001335384.1:p.Leu256Pro
NM_001348456.2:c.413T>C	NP_001335385.1:p.Leu138Pro
NM_001348457.2:c.413T>C	NP_001335386.1:p.Leu138Pro
NM_001348458.2:c.413T>C	NP_001335387.1:p.Leu138Pro
NM_001348459.2:c.413T>C	NP_001335388.1:p.Leu138Pro
NM_001348460.2:c.413T>C	NP_001335389.1:p.Leu138Pro
NM_001348461.2:c.413T>C	NP_001335390.1:p.Leu138Pro
NM_001348462.2:c.413T>C	NP_001335391.1:p.Leu138Pro
NM_001348463.2:c.413T>C	NP_001335392.1:p.Leu138Pro
NM_001348464.2:c.413T>C	NP_001335393.1:p.Leu138Pro
NM_001348465.2:c.413T>C	NP_001335394.1:p.Leu138Pro
NM_001348466.2:c.413T>C	NP_001335395.1:p.Leu138Pro
NM_024568.4:c.917T>C	NP_078844.2:p.Leu306Pro
NR_046070.3:n.1106-3087T>C
NR_145681.2:n.1013T>C
NR_145682.2:n.1202T>C
NR_145683.2:n.1195T>C
NR_145684.2:n.1082T>C
NR_145685.2:n.1113T>C
NR_145686.2:n.1202T>C
NR_145687.2:n.338-3087T>C
NR_145688.2:n.1057T>C
NR_145689.2:n.1089T>C
NR_145690.2:n.753T>C
NR_145691.2:n.1087T>C
NR_145692.2:n.1120T>C
NR_145693.2:n.703T>C
NR_145694.2:n.1195T>C
NR_145695.2:n.1007T>C
NM_001348452.2:c.1040T>C	NP_001335381.1:p.Leu347Pro