Canonical Allele Identifier: CA2638710298

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194666-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194666A>G , CM000679.2:g.50194666A>G	GRCh38
NC_000017.10:g.48272027A>G , CM000679.1:g.48272027A>G	GRCh37
NC_000017.9:g.45627026A>G	NCBI36
NG_007400.1:g.11974T>C , LRG_1:g.11974T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1462-40T>C MANE Select	ENSP00000225964.6:n.1462-40T>C
ENST00000225964.9:c.1462-40T>C	ENSP00000225964.5:n.1462-40T>C
ENST00000471344.1:n.406-40T>C
NM_000088.3:c.1462-40T>C , LRG_1t1:c.1462-40T>C	NP_000079.2:n.1462-40T>C
XM_005257058.3:c.1462-40T>C	XP_005257115.2:n.1462-40T>C
XM_005257059.3:c.957+1648T>C	XP_005257116.2:n.957+1648T>C
XM_011524341.1:c.1264-40T>C	XP_011522643.1:n.1264-40T>C
XM_005257058.4:c.1462-40T>C	XP_005257115.2:n.1462-40T>C
XM_005257059.4:c.957+1648T>C	XP_005257116.2:n.957+1648T>C
NM_000088.4:c.1462-40T>C MANE Select	NP_000079.2:n.1462-40T>C