Canonical Allele Identifier: CA291542800

Gene: COL1A1

Linked Data

• dbSNP Id: rs952458984
• MyVariant Identifiers: chr17:g.48263257A>G (hg19) ; chr17:g.50185896A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185896A>G , CM000679.2:g.50185896A>G	GRCh38
NC_000017.10:g.48263257A>G , CM000679.1:g.48263257A>G	GRCh37
NC_000017.9:g.45618256A>G	NCBI36
NG_007400.1:g.20744T>C , LRG_1:g.20744T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4130T>C MANE Select	ENSP00000225964.6:p.Met1377Thr
ENST00000225964.9:c.4130T>C	ENSP00000225964.5:p.Met1377Thr
ENST00000510710.3:n.1095T>C
NM_000088.3:c.4130T>C , LRG_1t1:c.4130T>C	NP_000079.2:p.Met1377Thr
XM_005257058.3:c.3860T>C	XP_005257115.2:p.Met1287Thr
XM_005257059.3:c.3212T>C	XP_005257116.2:p.Met1071Thr
XM_011524341.1:c.3932T>C	XP_011522643.1:p.Met1311Thr
XM_005257058.4:c.3860T>C	XP_005257115.2:p.Met1287Thr
XM_005257059.4:c.3212T>C	XP_005257116.2:p.Met1071Thr
NM_000088.4:c.4130T>C MANE Select	NP_000079.2:p.Met1377Thr