Canonical Allele Identifier: CA8645118

Gene: COL1A1

Linked Data

• dbSNP Id: rs199783930
• ExAC: 17:48271270 C / G
• gnomAD v2: 17-48271270-C-G
• gnomAD v3: 17-50193909-C-G
• gnomAD v4: 17-50193909-C-G
• MyVariant Identifiers: chr17:g.48271270C>G (hg19) ; chr17:g.50193909C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193909C>G , CM000679.2:g.50193909C>G	GRCh38
NC_000017.10:g.48271270C>G , CM000679.1:g.48271270C>G	GRCh37
NC_000017.9:g.45626269C>G	NCBI36
NG_007400.1:g.12731G>C , LRG_1:g.12731G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+34G>C MANE Select	ENSP00000225964.6:n.1767+34G>C
ENST00000225964.9:c.1767+34G>C	ENSP00000225964.5:n.1767+34G>C
ENST00000463440.1:n.191G>C
ENST00000471344.1:n.833G>C
ENST00000476387.1:n.116+34G>C
NM_000088.3:c.1767+34G>C , LRG_1t1:c.1767+34G>C	NP_000079.2:n.1767+34G>C
XM_005257058.3:c.1767+34G>C	XP_005257115.2:n.1767+34G>C
XM_005257059.3:c.958-1216G>C	XP_005257116.2:n.958-1216G>C
XM_011524341.1:c.1569+34G>C	XP_011522643.1:n.1569+34G>C
XM_005257058.4:c.1767+34G>C	XP_005257115.2:n.1767+34G>C
XM_005257059.4:c.958-1216G>C	XP_005257116.2:n.958-1216G>C
NM_000088.4:c.1767+34G>C MANE Select	NP_000079.2:n.1767+34G>C