Canonical Allele Identifier: CA394875559

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154911-G-T
• MyVariant Identifiers: chr16:g.16248768G>T (hg19) ; chr16:g.16154911G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154911G>T , CM000678.2:g.16154911G>T	GRCh38
NC_000016.9:g.16248768G>T , CM000678.1:g.16248768G>T	GRCh37
NC_000016.8:g.16156269G>T	NCBI36
NG_007558.2:g.73561C>A
NG_007558.3:g.73707C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.866C>A
ENST00000622290.5:c.*175C>A	ENSP00000483331.2:n.*175C>A
ENST00000205557.12:c.4003C>A MANE Select	ENSP00000205557.7:p.Leu1335Met
ENST00000640696.1:c.817C>A	ENSP00000492197.1:p.Leu273Met
ENST00000205557.11:c.4003C>A	ENSP00000205557.7:p.Leu1335Met
ENST00000456970.6:c.3628C>A	ENSP00000405002.2:n.3628C>A
ENST00000576204.5:n.866C>A
ENST00000622290.4:c.*1212C>A	ENSP00000483331.1:n.*1212C>A
NM_001171.5:c.4003C>A	NP_001162.4:p.Leu1335Met
XM_011522479.1:c.3970C>A	XP_011520781.1:p.Leu1324Met
XM_011522480.1:c.3661C>A	XP_011520782.1:p.Leu1221Met
XM_011522481.1:c.3661C>A	XP_011520783.1:p.Leu1221Met
XR_933134.1:n.539-4870G>T
NM_001351800.1:c.3661C>A	NP_001338729.1:p.Leu1221Met
NR_147784.1:n.3665C>A
XM_011522479.2:c.3970C>A	XP_011520781.1:p.Leu1324Met
XM_011522481.3:c.3661C>A	XP_011520783.1:p.Leu1221Met
XM_017023212.1:c.3835C>A	XP_016878701.1:p.Leu1279Met
XM_024450261.1:c.4039C>A	XP_024306029.1:p.Leu1347Met
NM_001171.6:c.4003C>A MANE Select	NP_001162.5:p.Leu1335Met