Canonical Allele Identifier: CA394884478

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248534G>T (hg19) ; chr16:g.16154677G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154677G>T , CM000678.2:g.16154677G>T	GRCh38
NC_000016.9:g.16248534G>T , CM000678.1:g.16248534G>T	GRCh37
NC_000016.8:g.16156035G>T	NCBI36
NG_007558.2:g.73795C>A
NG_007558.3:g.73941C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*331C>A	ENSP00000483331.2:n.*331C>A
ENST00000205557.12:c.4159C>A MANE Select	ENSP00000205557.7:p.Leu1387Met
ENST00000640696.1:c.973C>A	ENSP00000492197.1:p.Leu325Met
ENST00000205557.11:c.4159C>A	ENSP00000205557.7:p.Leu1387Met
ENST00000456970.6:c.3784C>A	ENSP00000405002.2:n.3784C>A
ENST00000576204.5:n.1022C>A
ENST00000622290.4:c.*1368C>A	ENSP00000483331.1:n.*1368C>A
NM_001171.5:c.4159C>A	NP_001162.4:p.Leu1387Met
XM_011522479.1:c.4126C>A	XP_011520781.1:p.Leu1376Met
XM_011522480.1:c.3817C>A	XP_011520782.1:p.Leu1273Met
XM_011522481.1:c.3817C>A	XP_011520783.1:p.Leu1273Met
XR_933134.1:n.539-5104G>T
NM_001351800.1:c.3817C>A	NP_001338729.1:p.Leu1273Met
NR_147784.1:n.3821C>A
XM_011522479.2:c.4126C>A	XP_011520781.1:p.Leu1376Met
XM_011522481.3:c.3817C>A	XP_011520783.1:p.Leu1273Met
XM_017023212.1:c.3991C>A	XP_016878701.1:p.Leu1331Met
XM_024450261.1:c.4195C>A	XP_024306029.1:p.Leu1399Met
NM_001171.6:c.4159C>A MANE Select	NP_001162.5:p.Leu1387Met