Canonical Allele Identifier: CA2638709989

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50193715-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193715T>C , CM000679.2:g.50193715T>C	GRCh38
NC_000017.10:g.48271076T>C , CM000679.1:g.48271076T>C	GRCh37
NC_000017.9:g.45626075T>C	NCBI36
NG_007400.1:g.12925A>G , LRG_1:g.12925A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+228A>G MANE Select	ENSP00000225964.6:n.1767+228A>G
ENST00000225964.9:c.1767+228A>G	ENSP00000225964.5:n.1767+228A>G
ENST00000463440.1:n.385A>G
ENST00000471344.1:n.1027A>G
ENST00000476387.1:n.116+228A>G
NM_000088.3:c.1767+228A>G , LRG_1t1:c.1767+228A>G	NP_000079.2:n.1767+228A>G
XM_005257058.3:c.1767+228A>G	XP_005257115.2:n.1767+228A>G
XM_005257059.3:c.958-1022A>G	XP_005257116.2:n.958-1022A>G
XM_011524341.1:c.1569+228A>G	XP_011522643.1:n.1569+228A>G
XM_005257058.4:c.1767+228A>G	XP_005257115.2:n.1767+228A>G
XM_005257059.4:c.958-1022A>G	XP_005257116.2:n.958-1022A>G
NM_000088.4:c.1767+228A>G MANE Select	NP_000079.2:n.1767+228A>G