Canonical Allele Identifier: CA359499944

Gene: CPLANE1

Linked Data

• MyVariant Identifiers: chr5:g.37125501A>G (hg19) ; chr5:g.37125399A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125399A>G , CM000667.2:g.37125399A>G	GRCh38
NC_000005.9:g.37125501A>G , CM000667.1:g.37125501A>G	GRCh37
NC_000005.8:g.37161258A>G	NCBI36
NG_032772.1:g.129030T>C
NG_032772.2:g.129030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1802T>C
ENST00000651892.2:c.8803T>C MANE Select	ENSP00000498265.2:p.Tyr2935His
ENST00000676160.1:n.664T>C
ENST00000425232.6:c.8641T>C	ENSP00000389014.2:p.Tyr2881His
ENST00000508244.5:c.8641T>C	ENSP00000421690.1:p.Tyr2881His
ENST00000509849.5:c.5815T>C	ENSP00000426337.1:n.5815T>C
ENST00000509957.5:n.3984T>C
ENST00000512288.5:n.342-3615T>C
ENST00000514429.5:c.5839T>C	ENSP00000424223.1:p.Tyr1947His
NM_023073.3:c.8641T>C	NP_075561.3:p.Tyr2881His
XM_005248345.2:c.8803T>C	XP_005248402.1:p.Tyr2935His
XM_005248346.2:c.8800T>C	XP_005248403.1:p.Tyr2934His
XM_005248347.2:c.8800T>C	XP_005248404.1:p.Tyr2934His
XM_005248349.2:c.8692T>C	XP_005248406.1:p.Tyr2898His
XM_005248350.2:c.8674T>C	XP_005248407.1:p.Tyr2892His
XM_005248353.3:c.5446T>C	XP_005248410.1:p.Tyr1816His
XM_006714489.2:c.8803T>C	XP_006714552.1:p.Tyr2935His
XM_006714491.2:c.3376T>C	XP_006714554.1:p.Tyr1126His
XM_011514085.1:c.8803T>C	XP_011512387.1:p.Tyr2935His
XM_011514086.1:c.8803T>C	XP_011512388.1:p.Tyr2935His
XM_011514087.1:c.8749T>C	XP_011512389.1:p.Tyr2917His
XM_011514088.1:c.8695T>C	XP_011512390.1:p.Tyr2899His
XM_011514089.1:c.8803T>C	XP_011512391.1:p.Tyr2935His
XM_011514090.1:c.8485T>C	XP_011512392.1:p.Tyr2829His
XM_011514091.1:c.8131T>C	XP_011512393.1:p.Tyr2711His
XM_011514092.1:c.8803T>C	XP_011512394.1:p.Tyr2935His
XM_011514094.1:c.6028T>C	XP_011512396.1:p.Tyr2010His
XR_427661.2:n.8978T>C
XR_925644.1:n.8978T>C
XM_005248345.4:c.8803T>C	XP_005248402.1:p.Tyr2935His
XM_005248346.4:c.8800T>C	XP_005248403.1:p.Tyr2934His
XM_005248347.4:c.8800T>C	XP_005248404.1:p.Tyr2934His
XM_005248349.4:c.8692T>C	XP_005248406.1:p.Tyr2898His
XM_005248350.4:c.8674T>C	XP_005248407.1:p.Tyr2892His
XM_006714491.3:c.3376T>C	XP_006714554.1:p.Tyr1126His
XM_011514085.3:c.8803T>C	XP_011512387.1:p.Tyr2935His
XM_011514086.3:c.8803T>C	XP_011512388.1:p.Tyr2935His
XM_011514087.2:c.8749T>C	XP_011512389.1:p.Tyr2917His
XM_011514088.2:c.8695T>C	XP_011512390.1:p.Tyr2899His
XM_011514089.2:c.8803T>C	XP_011512391.1:p.Tyr2935His
XM_011514090.3:c.8485T>C	XP_011512392.1:p.Tyr2829His
XM_011514092.2:c.8803T>C	XP_011512394.1:p.Tyr2935His
XM_011514094.2:c.6028T>C	XP_011512396.1:p.Tyr2010His
XM_017009760.1:c.8614T>C	XP_016865249.1:p.Tyr2872His
XM_017009761.2:c.8614T>C	XP_016865250.1:p.Tyr2872His
XM_017009763.1:c.7810T>C	XP_016865252.1:p.Tyr2604His
XM_017009765.1:c.7615T>C	XP_016865254.1:p.Tyr2539His
XM_017009766.1:c.5446T>C	XP_016865255.1:p.Tyr1816His
XM_024446183.1:c.8614T>C	XP_024301951.1:p.Tyr2872His
XM_024446184.1:c.8485T>C	XP_024301952.1:p.Tyr2829His
XM_024446185.1:c.8131T>C	XP_024301953.1:p.Tyr2711His
XM_024446186.1:c.7810T>C	XP_024301954.1:p.Tyr2604His
XR_001742208.1:n.8972T>C
XR_925644.2:n.9027T>C
NM_001384732.1:c.8803T>C MANE Select	NP_001371661.1:p.Tyr2935His
NM_023073.4:c.8641T>C	NP_075561.3:p.Tyr2881His