Canonical Allele Identifier: CA394875490

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248753A>G (hg19) ; chr16:g.16154896A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154896A>G , CM000678.2:g.16154896A>G	GRCh38
NC_000016.9:g.16248753A>G , CM000678.1:g.16248753A>G	GRCh37
NC_000016.8:g.16156254A>G	NCBI36
NG_007558.2:g.73576T>C
NG_007558.3:g.73722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.881T>C
ENST00000622290.5:c.*190T>C	ENSP00000483331.2:n.*190T>C
ENST00000205557.12:c.4018T>C MANE Select	ENSP00000205557.7:p.Ser1340Pro
ENST00000640696.1:c.832T>C	ENSP00000492197.1:p.Ser278Pro
ENST00000205557.11:c.4018T>C	ENSP00000205557.7:p.Ser1340Pro
ENST00000456970.6:c.3643T>C	ENSP00000405002.2:n.3643T>C
ENST00000576204.5:n.881T>C
ENST00000622290.4:c.*1227T>C	ENSP00000483331.1:n.*1227T>C
NM_001171.5:c.4018T>C	NP_001162.4:p.Ser1340Pro
XM_011522479.1:c.3985T>C	XP_011520781.1:p.Ser1329Pro
XM_011522480.1:c.3676T>C	XP_011520782.1:p.Ser1226Pro
XM_011522481.1:c.3676T>C	XP_011520783.1:p.Ser1226Pro
XR_933134.1:n.539-4885A>G
NM_001351800.1:c.3676T>C	NP_001338729.1:p.Ser1226Pro
NR_147784.1:n.3680T>C
XM_011522479.2:c.3985T>C	XP_011520781.1:p.Ser1329Pro
XM_011522481.3:c.3676T>C	XP_011520783.1:p.Ser1226Pro
XM_017023212.1:c.3850T>C	XP_016878701.1:p.Ser1284Pro
XM_024450261.1:c.4054T>C	XP_024306029.1:p.Ser1352Pro
NM_001171.6:c.4018T>C MANE Select	NP_001162.5:p.Ser1340Pro