Canonical Allele Identifier: CA367869324

Gene: ELN

Linked Data

• gnomAD v4: 7-74042702-G-T
• MyVariant Identifiers: chr7:g.73457032G>T (hg19) ; chr7:g.74042702G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74042702G>T , CM000669.2:g.74042702G>T	GRCh38
NC_000007.13:g.73457032G>T , CM000669.1:g.73457032G>T	GRCh37
NC_000007.12:g.73094968G>T	NCBI36
NG_009261.1:g.19606G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.321G>T	ENSP00000510104.1:p.Lys107Asn
ENST00000252034.12:c.321G>T MANE Select	ENSP00000252034.7:p.Lys107Asn
ENST00000252034.11:c.321G>T	ENSP00000252034.7:p.Lys107Asn
ENST00000320399.10:c.321G>T	ENSP00000313565.6:p.Lys107Asn
ENST00000320492.11:c.285G>T	ENSP00000315607.7:p.Lys95Asn
ENST00000357036.9:c.321G>T	ENSP00000349540.5:p.Lys107Asn
ENST00000358929.8:c.321G>T	ENSP00000351807.5:p.Lys107Asn
ENST00000380553.8:c.232+1451G>T	ENSP00000369926.4:n.232+1451G>T
ENST00000380562.8:c.321G>T	ENSP00000369936.4:p.Lys107Asn
ENST00000380575.8:c.291G>T	ENSP00000369949.4:p.Lys97Asn
ENST00000380576.9:c.321G>T	ENSP00000369950.5:p.Lys107Asn
ENST00000380584.8:c.321G>T	ENSP00000369958.4:p.Lys107Asn
ENST00000414324.5:c.291G>T	ENSP00000392575.1:p.Lys97Asn
ENST00000416107.5:c.*388G>T	ENSP00000404138.1:n.*388G>T
ENST00000417091.5:c.321G>T	ENSP00000411092.1:p.Lys107Asn
ENST00000419398.1:c.69G>T	ENSP00000412262.1:p.Lys23Asn
ENST00000428787.5:c.321G>T	ENSP00000399499.1:p.Lys107Asn
ENST00000429192.5:c.321G>T	ENSP00000391129.1:p.Lys107Asn
ENST00000431562.5:c.255G>T	ENSP00000394549.1:p.Lys85Asn
ENST00000438880.5:c.197-3994G>T	ENSP00000389206.1:n.197-3994G>T
ENST00000438906.5:c.285G>T	ENSP00000406949.1:p.Lys95Asn
ENST00000442310.5:c.321G>T	ENSP00000403961.1:p.Lys107Asn
ENST00000445912.5:c.321G>T	ENSP00000389857.1:p.Lys107Asn
ENST00000458204.5:c.291G>T	ENSP00000403162.1:p.Lys97Asn
ENST00000462506.5:n.336G>T
ENST00000468517.5:n.383G>T
ENST00000473323.1:n.297G>T
ENST00000479432.5:n.300G>T
ENST00000480728.5:n.335G>T
ENST00000492003.5:n.385G>T
ENST00000621115.4:c.291G>T	ENSP00000480955.1:p.Lys97Asn
NM_000501.3:c.321G>T	NP_000492.2:p.Lys107Asn
NM_001081752.2:c.291G>T	NP_001075221.1:p.Lys97Asn
NM_001081753.2:c.321G>T	NP_001075222.1:p.Lys107Asn
NM_001081754.2:c.321G>T	NP_001075223.1:p.Lys107Asn
NM_001081755.2:c.321G>T	NP_001075224.1:p.Lys107Asn
NM_001278912.1:c.321G>T	NP_001265841.1:p.Lys107Asn
NM_001278913.1:c.285G>T	NP_001265842.1:p.Lys95Asn
NM_001278914.1:c.291G>T	NP_001265843.1:p.Lys97Asn
NM_001278915.1:c.321G>T	NP_001265844.1:p.Lys107Asn
NM_001278916.1:c.321G>T	NP_001265845.1:p.Lys107Asn
NM_001278917.1:c.291G>T	NP_001265846.1:p.Lys97Asn
NM_001278918.1:c.291G>T	NP_001265847.1:p.Lys97Asn
NM_001278939.1:c.321G>T	NP_001265868.1:p.Lys107Asn
XM_005250187.1:c.285G>T	XP_005250244.1:p.Lys95Asn
XM_005250188.1:c.321G>T	XP_005250245.1:p.Lys107Asn
XM_011515868.1:c.321G>T	XP_011514170.1:p.Lys107Asn
XM_011515869.1:c.291G>T	XP_011514171.1:p.Lys97Asn
XM_011515870.1:c.285G>T	XP_011514172.1:p.Lys95Asn
XM_011515871.1:c.321G>T	XP_011514173.1:p.Lys107Asn
XM_011515872.1:c.321G>T	XP_011514174.1:p.Lys107Asn
XM_011515873.1:c.321G>T	XP_011514175.1:p.Lys107Asn
XM_011515874.1:c.255G>T	XP_011514176.1:p.Lys85Asn
XM_011515875.1:c.255G>T	XP_011514177.1:p.Lys85Asn
XM_011515876.1:c.321G>T	XP_011514178.1:p.Lys107Asn
XM_011515877.1:c.321G>T	XP_011514179.1:p.Lys107Asn
XM_005250187.2:c.285G>T	XP_005250244.1:p.Lys95Asn
XM_005250188.2:c.321G>T	XP_005250245.1:p.Lys107Asn
XM_011515868.2:c.321G>T	XP_011514170.1:p.Lys107Asn
XM_011515871.2:c.321G>T	XP_011514173.1:p.Lys107Asn
XM_011515872.2:c.321G>T	XP_011514174.1:p.Lys107Asn
XM_011515873.2:c.321G>T	XP_011514175.1:p.Lys107Asn
XM_011515875.2:c.255G>T	XP_011514177.1:p.Lys85Asn
XM_011515876.2:c.321G>T	XP_011514178.1:p.Lys107Asn
XM_011515877.2:c.321G>T	XP_011514179.1:p.Lys107Asn
XM_017011813.1:c.291G>T	XP_016867302.1:p.Lys97Asn
XM_017011814.2:c.321G>T	XP_016867303.1:p.Lys107Asn
NM_000501.4:c.321G>T MANE Select	NP_000492.2:p.Lys107Asn
NM_001081752.3:c.291G>T	NP_001075221.1:p.Lys97Asn
NM_001081753.3:c.321G>T	NP_001075222.1:p.Lys107Asn
NM_001081754.3:c.321G>T	NP_001075223.1:p.Lys107Asn
NM_001081755.3:c.321G>T	NP_001075224.1:p.Lys107Asn
NM_001278912.2:c.321G>T	NP_001265841.1:p.Lys107Asn
NM_001278913.2:c.285G>T	NP_001265842.1:p.Lys95Asn
NM_001278914.2:c.291G>T	NP_001265843.1:p.Lys97Asn
NM_001278915.2:c.321G>T	NP_001265844.1:p.Lys107Asn
NM_001278916.2:c.321G>T	NP_001265845.1:p.Lys107Asn
NM_001278917.2:c.291G>T	NP_001265846.1:p.Lys97Asn
NM_001278918.2:c.291G>T	NP_001265847.1:p.Lys97Asn
NM_001278939.2:c.321G>T	NP_001265868.1:p.Lys107Asn