Canonical Allele Identifier: CA394883455

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244004A>G (hg19) ; chr16:g.16150147A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150147A>G , CM000678.2:g.16150147A>G	GRCh38
NC_000016.9:g.16244004A>G , CM000678.1:g.16244004A>G	GRCh37
NC_000016.8:g.16151505A>G	NCBI36
NG_007558.2:g.78325T>C
NG_007558.3:g.78471T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*670T>C	ENSP00000483331.2:n.*670T>C
ENST00000205557.12:c.4498T>C MANE Select	ENSP00000205557.7:p.Ser1500Pro
ENST00000640696.1:c.1312T>C	ENSP00000492197.1:p.Ser438Pro
ENST00000205557.11:c.4498T>C	ENSP00000205557.7:p.Ser1500Pro
ENST00000456970.6:c.4123T>C	ENSP00000405002.2:n.4123T>C
ENST00000576204.5:n.1361T>C
ENST00000622290.4:c.*1707T>C	ENSP00000483331.1:n.*1707T>C
NM_001171.5:c.4498T>C	NP_001162.4:p.Ser1500Pro
XM_011522479.1:c.4465T>C	XP_011520781.1:p.Ser1489Pro
XM_011522480.1:c.4156T>C	XP_011520782.1:p.Ser1386Pro
XM_011522481.1:c.4156T>C	XP_011520783.1:p.Ser1386Pro
XR_933134.1:n.538+5857A>G
NM_001351800.1:c.4156T>C	NP_001338729.1:p.Ser1386Pro
NR_147784.1:n.4160T>C
XM_011522479.2:c.4465T>C	XP_011520781.1:p.Ser1489Pro
XM_011522481.3:c.4156T>C	XP_011520783.1:p.Ser1386Pro
XM_017023212.1:c.4330T>C	XP_016878701.1:p.Ser1444Pro
XM_024450261.1:c.4534T>C	XP_024306029.1:p.Ser1512Pro
NM_001171.6:c.4498T>C MANE Select	NP_001162.5:p.Ser1500Pro