Canonical Allele Identifier: CA394883971

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244582T>A (hg19) ; chr16:g.16150725T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150725T>A , CM000678.2:g.16150725T>A	GRCh38
NC_000016.9:g.16244582T>A , CM000678.1:g.16244582T>A	GRCh37
NC_000016.8:g.16152083T>A	NCBI36
NG_007558.2:g.77747A>T
NG_007558.3:g.77893A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*428A>T	ENSP00000483331.2:n.*428A>T
ENST00000205557.12:c.4256A>T MANE Select	ENSP00000205557.7:p.Lys1419Met
ENST00000640696.1:c.1070A>T	ENSP00000492197.1:p.Lys357Met
ENST00000205557.11:c.4256A>T	ENSP00000205557.7:p.Lys1419Met
ENST00000456970.6:c.3881A>T	ENSP00000405002.2:n.3881A>T
ENST00000576204.5:n.1119A>T
ENST00000622290.4:c.*1465A>T	ENSP00000483331.1:n.*1465A>T
NM_001171.5:c.4256A>T	NP_001162.4:p.Lys1419Met
XM_011522479.1:c.4223A>T	XP_011520781.1:p.Lys1408Met
XM_011522480.1:c.3914A>T	XP_011520782.1:p.Lys1305Met
XM_011522481.1:c.3914A>T	XP_011520783.1:p.Lys1305Met
XR_933134.1:n.538+6435T>A
NM_001351800.1:c.3914A>T	NP_001338729.1:p.Lys1305Met
NR_147784.1:n.3918A>T
XM_011522479.2:c.4223A>T	XP_011520781.1:p.Lys1408Met
XM_011522481.3:c.3914A>T	XP_011520783.1:p.Lys1305Met
XM_017023212.1:c.4088A>T	XP_016878701.1:p.Lys1363Met
XM_024450261.1:c.4292A>T	XP_024306029.1:p.Lys1431Met
NM_001171.6:c.4256A>T MANE Select	NP_001162.5:p.Lys1419Met