Canonical Allele Identifier: CA2638680648

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50198771-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198771T>G , CM000679.2:g.50198771T>G	GRCh38
NC_000017.10:g.48276132T>G , CM000679.1:g.48276132T>G	GRCh37
NC_000017.9:g.45631131T>G	NCBI36
NG_007400.1:g.7869A>C , LRG_1:g.7869A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-267A>C MANE Select	ENSP00000225964.6:n.472-267A>C
ENST00000225964.9:c.472-267A>C	ENSP00000225964.5:n.472-267A>C
NM_000088.3:c.472-267A>C , LRG_1t1:c.472-267A>C	NP_000079.2:n.472-267A>C
XM_005257058.3:c.472-267A>C	XP_005257115.2:n.472-267A>C
XM_005257059.3:c.472-267A>C	XP_005257116.2:n.472-267A>C
XM_011524341.1:c.472-267A>C	XP_011522643.1:n.472-267A>C
XM_005257058.4:c.472-267A>C	XP_005257115.2:n.472-267A>C
XM_005257059.4:c.472-267A>C	XP_005257116.2:n.472-267A>C
NM_000088.4:c.472-267A>C MANE Select	NP_000079.2:n.472-267A>C