Canonical Allele Identifier: CA394883743

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244475G>A (hg19) ; chr16:g.16150618G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150618G>A , CM000678.2:g.16150618G>A	GRCh38
NC_000016.9:g.16244475G>A , CM000678.1:g.16244475G>A	GRCh37
NC_000016.8:g.16151976G>A	NCBI36
NG_007558.2:g.77854C>T
NG_007558.3:g.78000C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*535C>T	ENSP00000483331.2:n.*535C>T
ENST00000205557.12:c.4363C>T MANE Select	ENSP00000205557.7:p.Leu1455Phe
ENST00000640696.1:c.1177C>T	ENSP00000492197.1:p.Leu393Phe
ENST00000205557.11:c.4363C>T	ENSP00000205557.7:p.Leu1455Phe
ENST00000456970.6:c.3988C>T	ENSP00000405002.2:n.3988C>T
ENST00000576204.5:n.1226C>T
ENST00000622290.4:c.*1572C>T	ENSP00000483331.1:n.*1572C>T
NM_001171.5:c.4363C>T	NP_001162.4:p.Leu1455Phe
XM_011522479.1:c.4330C>T	XP_011520781.1:p.Leu1444Phe
XM_011522480.1:c.4021C>T	XP_011520782.1:p.Leu1341Phe
XM_011522481.1:c.4021C>T	XP_011520783.1:p.Leu1341Phe
XR_933134.1:n.538+6328G>A
NM_001351800.1:c.4021C>T	NP_001338729.1:p.Leu1341Phe
NR_147784.1:n.4025C>T
XM_011522479.2:c.4330C>T	XP_011520781.1:p.Leu1444Phe
XM_011522481.3:c.4021C>T	XP_011520783.1:p.Leu1341Phe
XM_017023212.1:c.4195C>T	XP_016878701.1:p.Leu1399Phe
XM_024450261.1:c.4399C>T	XP_024306029.1:p.Leu1467Phe
NM_001171.6:c.4363C>T MANE Select	NP_001162.5:p.Leu1455Phe