Canonical Allele Identifier: CA2638709066

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50188482-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188482G>C , CM000679.2:g.50188482G>C	GRCh38
NC_000017.10:g.48265843G>C , CM000679.1:g.48265843G>C	GRCh37
NC_000017.9:g.45620842G>C	NCBI36
NG_007400.1:g.18158C>G , LRG_1:g.18158C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+48C>G MANE Select	ENSP00000225964.6:n.3207+48C>G
ENST00000225964.9:c.3207+48C>G	ENSP00000225964.5:n.3207+48C>G
ENST00000486572.1:n.73C>G
ENST00000511732.1:n.199C>G
NM_000088.3:c.3207+48C>G , LRG_1t1:c.3207+48C>G	NP_000079.2:n.3207+48C>G
XM_005257058.3:c.2937+48C>G	XP_005257115.2:n.2937+48C>G
XM_005257059.3:c.2289+48C>G	XP_005257116.2:n.2289+48C>G
XM_011524341.1:c.3009+48C>G	XP_011522643.1:n.3009+48C>G
XM_005257058.4:c.2937+48C>G	XP_005257115.2:n.2937+48C>G
XM_005257059.4:c.2289+48C>G	XP_005257116.2:n.2289+48C>G
NM_000088.4:c.3207+48C>G MANE Select	NP_000079.2:n.3207+48C>G